Incidental Mutation 'R5968:Adgrf2'
| ID |
470714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf2
|
| Ensembl Gene |
ENSMUSG00000057899 |
| Gene Name |
adhesion G protein-coupled receptor F2 |
| Synonyms |
PGR20, Gpr111 |
| MMRRC Submission |
043249-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5968 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
43007021-43053070 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 43026063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113614]
|
| AlphaFold |
E9Q4J9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113614
|
| SMART Domains |
Protein: ENSMUSP00000109244
Gene: ENSMUSG00000057899
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
GPS
|
325 |
376 |
2.05e-4 |
SMART |
|
Pfam:7tm_2
|
378 |
625 |
4.1e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal viability and fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,077 (GRCm39) |
T978A |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,116,606 (GRCm39) |
L638P |
probably damaging |
Het |
| Anxa6 |
T |
C |
11: 54,885,167 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,043,945 (GRCm39) |
L668P |
probably damaging |
Het |
| Ces2e |
G |
T |
8: 105,659,627 (GRCm39) |
G498W |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,170,739 (GRCm39) |
C823R |
probably damaging |
Het |
| Ehmt1 |
C |
T |
2: 24,726,469 (GRCm39) |
R772H |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,074,587 (GRCm39) |
L721S |
probably benign |
Het |
| Flii |
T |
G |
11: 60,611,038 (GRCm39) |
I464L |
probably benign |
Het |
| Gm57858 |
T |
C |
3: 36,064,840 (GRCm39) |
Q511R |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,418,828 (GRCm39) |
E1162G |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,566,657 (GRCm39) |
S758G |
probably damaging |
Het |
| Ndst1 |
A |
C |
18: 60,846,148 (GRCm39) |
S54A |
probably benign |
Het |
| Ndufaf8 |
G |
T |
11: 119,990,055 (GRCm39) |
E56* |
probably null |
Het |
| Ndufb7 |
A |
G |
8: 84,293,530 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,018 (GRCm39) |
M277V |
possibly damaging |
Het |
| Or2a25 |
A |
G |
6: 42,888,480 (GRCm39) |
I8V |
probably benign |
Het |
| Prkg1 |
A |
T |
19: 30,570,324 (GRCm39) |
F443I |
probably damaging |
Het |
| Pspc1 |
C |
T |
14: 57,001,693 (GRCm39) |
R227H |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,677,149 (GRCm39) |
Y120H |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,841,890 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,477,394 (GRCm39) |
D4449G |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,078 (GRCm39) |
A159E |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,226 (GRCm39) |
I360V |
possibly damaging |
Het |
| Tcstv5 |
T |
C |
13: 120,411,618 (GRCm39) |
|
probably benign |
Het |
| Thop1 |
A |
G |
10: 80,911,393 (GRCm39) |
D93G |
probably benign |
Het |
| Tmem92 |
A |
C |
11: 94,669,564 (GRCm39) |
M85R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,688,017 (GRCm39) |
|
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,524,719 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
T |
C |
2: 164,734,314 (GRCm39) |
H1291R |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,451,496 (GRCm39) |
C101Y |
probably damaging |
Het |
|
| Other mutations in Adgrf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Adgrf2
|
APN |
17 |
43,025,206 (GRCm39) |
splice site |
probably benign |
|
|
IGL01089:Adgrf2
|
APN |
17 |
43,021,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01601:Adgrf2
|
APN |
17 |
43,020,940 (GRCm39) |
missense |
probably benign |
|
|
IGL01765:Adgrf2
|
APN |
17 |
43,030,426 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02946:Adgrf2
|
APN |
17 |
43,021,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Adgrf2
|
UTSW |
17 |
43,025,206 (GRCm39) |
splice site |
probably benign |
|
|
R0720:Adgrf2
|
UTSW |
17 |
43,024,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Adgrf2
|
UTSW |
17 |
43,021,334 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1664:Adgrf2
|
UTSW |
17 |
43,025,305 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2008:Adgrf2
|
UTSW |
17 |
43,021,013 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2306:Adgrf2
|
UTSW |
17 |
43,024,010 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2519:Adgrf2
|
UTSW |
17 |
43,021,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Adgrf2
|
UTSW |
17 |
43,023,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Adgrf2
|
UTSW |
17 |
43,021,903 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4272:Adgrf2
|
UTSW |
17 |
43,021,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4273:Adgrf2
|
UTSW |
17 |
43,021,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4422:Adgrf2
|
UTSW |
17 |
43,024,046 (GRCm39) |
missense |
probably benign |
|
|
R4732:Adgrf2
|
UTSW |
17 |
43,021,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Adgrf2
|
UTSW |
17 |
43,021,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Adgrf2
|
UTSW |
17 |
43,022,084 (GRCm39) |
missense |
probably benign |
|
|
R5053:Adgrf2
|
UTSW |
17 |
43,021,334 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5078:Adgrf2
|
UTSW |
17 |
43,021,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Adgrf2
|
UTSW |
17 |
43,020,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5147:Adgrf2
|
UTSW |
17 |
43,021,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5953:Adgrf2
|
UTSW |
17 |
43,021,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Adgrf2
|
UTSW |
17 |
43,021,774 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7138:Adgrf2
|
UTSW |
17 |
43,021,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7612:Adgrf2
|
UTSW |
17 |
43,025,271 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7670:Adgrf2
|
UTSW |
17 |
43,022,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8291:Adgrf2
|
UTSW |
17 |
43,021,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Adgrf2
|
UTSW |
17 |
43,021,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8510:Adgrf2
|
UTSW |
17 |
43,030,431 (GRCm39) |
nonsense |
probably null |
|
|
R9736:Adgrf2
|
UTSW |
17 |
43,022,212 (GRCm39) |
missense |
probably benign |
0.42 |
|
X0061:Adgrf2
|
UTSW |
17 |
43,023,965 (GRCm39) |
missense |
probably benign |
0.37 |
|
X0067:Adgrf2
|
UTSW |
17 |
43,021,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCGATGAGAATTCTGTAGC -3'
(R):5'- AAGTCATCGGGCCATTTGCG -3'
Sequencing Primer
(F):5'- AGAAGATATGACTATTGCTAGGACC -3'
(R):5'- ATTTGCGACAGCTGGGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation